Propionic acidemia ndi matenda osowa komanso oopsa a majini omwe amakhudza machitidwe osiyanasiyana a thupi, kuphatikizapo ubongo ndi mtima. Nthawi zambiri amapezeka atangobadwa kumene. Amakhudza anthu 3,000 mpaka 30,000 ku United States.
Chifukwa cha zolakwika za majini, thupi silingathe kukonza bwino magawo ena a mapuloteni ndi mafuta. Izi pamapeto pake zimapangitsa kuti pakhale zizindikiro za matendawa. Ngati sizipezeka ndi kuchiritsidwa pa nthawi yake, zimatha kubweretsa chikomokere komanso imfa.
Nkhaniyi ikufotokoza zizindikiro za propionic acidemia ndi momwe mungadziwire matendawa. Ikufotokoza za chithandizo cha vutoli, mavuto ena azachipatala okhudzana ndi vutoli, komanso zambiri zokhudza moyo wa propionic acidemia.
Nthawi zambiri, zizindikiro za propionic acidemia zimawonekera mkati mwa masiku ochepa kuchokera pamene anabadwa. Makanda amabadwa athanzi koma posakhalitsa amawonetsa zizindikiro monga kusadya bwino komanso kuchepa kwa mayankho. Ngati sizipezeka ndi kuchiritsidwa, zizindikiro zina zimatha kuonekera.
Kawirikawiri, zizindikiro zimatha kuwonekera kumayambiriro kwa ubwana, unyamata, kapena ukalamba. Propionic acidemia ingayambitsenso mavuto aakulu, mosasamala kanthu kuti ayamba liti.
Propionic acidemia ndi "cholakwika chobadwa nacho cha kagayidwe kachakudya". Ili ndi gulu la matenda osowa omwe amayamba chifukwa cha zolakwika zosiyanasiyana za majini. Angayambitse mavuto ndi kagayidwe kachakudya, njira yomwe michere m'zakudya imasandutsidwira mphamvu.
Kagayidwe kachakudya kamachitika kudzera mu njira zosiyanasiyana zovuta komanso zogwirizana bwino za mankhwala, kotero mavuto ndi majini osiyanasiyana angayambitse kusokonezeka kwa njira zachibadwa za kagayidwe kachakudya.
Propionic acidemia ilinso m'gulu la matenda awa otchedwa organic aciduria. Matendawa a majini amayamba chifukwa cha kusokonekera kwa kagayidwe kachakudya ka mitundu ina ya amino acid (zomwe zimamanga mapuloteni) ndi zigawo zina za chakudya ndi mafuta.
Zotsatira zake, kuchuluka kwa ma asidi ena omwe amapezeka m'thupi nthawi zambiri kungayambe kukwera kufika pamlingo wosayenera.
Zolakwika mu ma enzyme osiyanasiyana zimayambitsa mitundu yosiyanasiyana ya organic aciduria. Mwachitsanzo, matenda a maple syrup ndi matenda ena osowa kwambiri m'gululi. Dzina lake linachokera ku fungo lake lapadera.
Fungo la nsomba limadziwikanso kuti propionic acidemia odor ndipo lagwirizanitsidwa ndi imodzi mwa njira zake zochiritsira za moyo wake wonse.
Propionic acidemia imayamba chifukwa cha vuto la majini awiri: PCCA kapena PCCB. Majini awiriwa amapanga zigawo ziwiri za enzyme yotchedwa propionyl-CoA carboxylase (PCC). Popanda enzyme iyi, thupi silingathe kugaya bwino ma amino acid ena ndi zigawo zina za mafuta ndi cholesterol.
Osati pano. Ofufuza anali atazindikira kale majini a PCCA ndi PCCB, koma pamene sayansi inkapita patsogolo, anaphunzira kuti kusintha kwa majini mpaka 70 kungakhale ndi gawo. Chithandizo chingasiyane kutengera kusintha kwa majini, ndipo maphunziro ena okhudza majini asonyeza zotsatira zabwino pa chithandizo chamtsogolo. Pakadali pano, cholinga chachikulu chili pa chithandizo chomwe chilipo kale cha matendawa.
Zizindikiro zina za propionic acidemia zitha kuphatikizapo mavuto okhudzana ndi kupanga mphamvu chifukwa cha kusagwira bwino ntchito kwa kagayidwe kachakudya.
Propionic acidemia ndi matenda a majini omwe amakhudza autosomal recessive. Izi zikutanthauza kuti munthu ayenera kulandira jini yomwe yakhudzidwa kuchokera kwa makolo ake kuti apeze matendawa.
Ngati banja lili ndi mwana wobadwa ndi propionic acidemia, pali mwayi wa 25 peresenti kuti mwana wotsatira nayenso adzadwala matendawa. Ndikofunikanso kuyang'ana abale ndi alongo omwe alipo omwe angayambe zizindikiro pambuyo pake. Kuzindikira msanga ndi kulandira chithandizo kungathandize kupewa mavuto a nthawi yayitali a matendawa.
Kulankhula ndi mlangizi wa majini kungathandize kwambiri mabanja ambiri. Izi zidzakuthandizani kumvetsetsa zoopsa zomwe zingachitike chifukwa cha vuto lanu. Kuyezetsa mwana musanabadwe komanso kusankha mwana wosabadwayo kungakhalenso njira zina.
Kuzindikira propionic acidemia kumafuna mbiri yakale ndi kufufuza thupi, komanso mayeso a labotale. Ndikofunikira kupeza matenda mwachangu, chifukwa omwe akhudzidwa nthawi zambiri amakhala odwala kwambiri.
Mitundu yosiyanasiyana ya mavuto azachipatala ingayambitse zizindikiro zazikulu za mitsempha ndi zizindikiro zina zomwe zimapezeka mu propionic acidemia, kuphatikizapo matenda ena osowa a majini. Akatswiri azaumoyo ayenera kuletsa matenda ena omwe angachitike mwa kuchepetsa chomwe chimayambitsa matendawa.
Anthu omwe ali ndi propionic acidemia angakhalenso ndi vuto pa mayeso apadera. Mwachitsanzo, anthu omwe ali ndi vutoli amakhala ndi kuchuluka kwa mankhwala otchedwa propionylcarnitine.
Kutengera ndi mayeso oyamba awa, madokotala amagwira ntchito yotsimikizira matendawa. Izi zitha kuphatikizapo mayeso owunikira momwe enzyme ya PCC ikugwira ntchito. Kuyesa majini a majini a PCCA ndi PCCB kungagwiritsidwenso ntchito pofotokoza bwino matendawa.
Nthawi zina makanda amayamba kupezeka ndi matendawa potengera zotsatira za mayeso oyezetsa ana obadwa kumene. Komabe, si mayiko onse kapena mayiko padziko lonse lapansi omwe amayesa matendawa. Kuphatikiza apo, makanda angasonyeze zizindikiro asanapeze zotsatira za mayesowa.
Matenda oopsa omwe amayamba chifukwa cha propionic acidemia ndi vuto lachipatala. Popanda thandizo, anthu amatha kufa panthawi ya zochitikazi. Zitha kuchitika munthu asanadziwe matenda ake kapena nthawi ya nkhawa kapena matenda. Anthuwa amafunika thandizo lamphamvu kuchipatala.
Anthu omwe ali ndi propionic acidemia amakumana ndi mavuto ambiri ndipo nthawi zambiri amakhala ndi matenda ena. Mwachitsanzo, matenda a mtima omwe amayamba ali ana (apakati pa zaka 7) ndiye amachititsa imfa zambiri. Koma nkhani iliyonse ndi yapadera. Ndi chisamaliro chabwino, anthu ambiri omwe ali ndi propionic acidemia amatha kukhala ndi moyo wautali komanso wokwanira. Gulu la akatswiri osowa matenda a majini ndi akatswiri azaumoyo angathandize.
Propionic acidemia nthawi zambiri imayambitsa vuto la thanzi m'masiku oyamba a moyo lomwe lingakhale lovuta kwambiri. Njira yothetsera zomwe zikuchitika ingatenge nthawi. Imafuna chisamaliro chosalekeza, koma anthu ambiri omwe ali ndi propionic acidemia amapitiliza kukhala ndi moyo wabwino. Khalani omasuka kufikira anzanu, abale, ndi ogwira ntchito zachipatala kuti akuthandizeni.
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Wolemba: Ruth Jessen Hickman, MD Ruth Jessen Hickman, MD, ndi wolemba mabuku odziyimira pawokha okhudza zachipatala ndi zaumoyo komanso wolemba mabuku ofalitsidwa.